Canonical Allele Identifier: CA369860062

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649784G>T (hg19) ; chr7:g.150952696G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952696G>T , CM000669.2:g.150952696G>T	GRCh38
NC_000007.13:g.150649784G>T , CM000669.1:g.150649784G>T	GRCh37
NC_000007.12:g.150280717G>T	NCBI36
NG_008916.1:g.30231C>A , LRG_288:g.30231C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.584C>A
ENST00000684116.1:n.179C>A
ENST00000684241.1:n.2119C>A
ENST00000262186.10:c.1286C>A MANE Select	ENSP00000262186.5:p.Ala429Asp
ENST00000330883.9:c.266C>A	ENSP00000328531.4:p.Ala89Asp
ENST00000262186.9:c.1286C>A	ENSP00000262186.5:p.Ala429Asp
ENST00000330883.8:c.266C>A	ENSP00000328531.4:p.Ala89Asp
ENST00000430723.4:c.938C>A	ENSP00000387657.4:p.Ala313Asp
ENST00000461280.1:n.573C>A
ENST00000473610.5:n.591C>A
ENST00000532957.5:n.1509C>A
NM_000238.3:c.1286C>A , LRG_288t1:c.1286C>A	NP_000229.1:p.Ala429Asp
NM_001204798.1:c.266C>A	NP_001191727.1:p.Ala89Asp
NM_172056.2:c.1286C>A , LRG_288t2:c.1286C>A	NP_742053.1:p.Ala429Asp
NM_172057.2:c.266C>A , LRG_288t3:c.266C>A	NP_742054.1:p.Ala89Asp
XM_011516185.1:c.986C>A	XP_011514487.1:p.Ala329Asp
XM_011516186.1:c.1286C>A	XP_011514488.1:p.Ala429Asp
XM_011516185.2:c.986C>A	XP_011514487.1:p.Ala329Asp
XM_011516186.3:c.1286C>A	XP_011514488.1:p.Ala429Asp
XM_017012195.1:c.1136C>A	XP_016867684.1:p.Ala379Asp
XM_017012196.1:c.1109C>A	XP_016867685.1:p.Ala370Asp
NM_000238.4:c.1286C>A MANE Select	NP_000229.1:p.Ala429Asp
NM_001204798.2:c.266C>A	NP_001191727.1:p.Ala89Asp
NM_172057.3:c.266C>A	NP_742054.1:p.Ala89Asp